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Disease Ontology Browser
Lafora disease (DOID:3534)
Alliance: disease page
Synonyms: Lafora Progressive Myoclonic Epilepsy; Lafora's disease; MYOCLONIC EPILEPSY OF LAFORA
Alt IDs: OMIM:254780, MESH:D020192, NCI:C84804, UMLS_CUI:C0751783
Definition: A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3.

Disease References using Mouse Models (18)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory